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Maple syrup urine disease

MONDO:0009563

An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.

Also known as: BCKD deficiency, BCKDH deficiency, Ketoacidaemia, MSUD, branched chain ketoaciduria, branched-chain 2-ketoacid dehydrogenase deficiency, branched-chain ketoaciduria, maple syrup urine disease

4 clinical trials for this condition and its sub-types.

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Sub-types

Maple syrup urine disease type 1A (1) Maple syrup urine disease type 1B (1) Maple syrup urine disease type 2 (1) Pyruvate dehydrogenase E3 deficiency (1) Classic maple syrup urine disease (0) Intermediate maple syrup urine disease (0) Intermittent maple syrup urine disease (0) Maple syrup urine disease, mild variant (0) Thiamine-responsive maple syrup urine disease (0)

Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Inborn organic aciduria (5) Inborn disorder of amino acid metabolism (4) Disease of genetic or genomic mechanism (2) Amino acid metabolism disease (1) Disease by developmental or physiological process (0)
Trials to join now! 1 Not yet finished but already full! 1 Completed 2
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